ID:DIAP3_HUMAN DESCRIPTION: RecName: Full=Protein diaphanous homolog 3; AltName: Full=Diaphanous-related formin-3; Short=DRF3; AltName: Full=MDia2; FUNCTION: Binds to GTP-bound form of Rho and to profilin. Acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. It is required for cytokinesis, stress fiber formation, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). SUBCELLULAR LOCATION: Cytoplasm, cytosol. Note=During mitosis, co- localizes with the actin-rich cleavage furrow and with the microtubule-rich central spindle during cytokinesis. DEVELOPMENTAL STAGE: Increased expression in S phase and mitotic cells; levels decrease as cells enter in G0/G1 phase due to proteasomal degradation (at protein level). DOMAIN: The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity). DISEASE: Defects in DIAPH3 are the cause of auditory neuropathy, autosomal dominant, type 1 (AUNA1) [MIM:609129]. A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Note=A disease- causing mutation in the conserved 5'-UTR leads to increased protein expression (PubMed:20624953). SIMILARITY: Belongs to the formin homology family. Diaphanous subfamily. SIMILARITY: Contains 1 DAD (diaphanous autoregulatory) domain. SIMILARITY: Contains 1 FH1 (formin homology 1) domain. SIMILARITY: Contains 1 FH2 (formin homology 2) domain. SIMILARITY: Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain. SEQUENCE CAUTION: Sequence=AAW73254.1; Type=Frameshift; Positions=1147;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NSV4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
